Journal Browser Advanced Search Help
Journal Browser Advanced search HELP
-
J Korean Pediatr Soc. 2001 Jun;44(6):714-717. Korean. Original Article.
Park EY , Moon SJ .
Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea.
Abstract

The 49, XXXXY Klinefelter variant is distinctive; classic findings include mental retardation, hyp ogonadism and radioulnar synostosis. Its incidence is estimated to be 1/80,000 to 1/100,000 male births. We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases. Echocardiography showed patent ductus arteriosus (PDA), and pulmonary hypertension. A multicystic kidney was found by abdominal ultrasonography.

Copyright © 2019. Korean Association of Medical Journal Editors.